Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192832 | SCV000248828 | likely benign | not specified | 2021-11-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000861897 | SCV000515611 | benign | not provided | 2019-09-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317708 | SCV000851002 | likely benign | Inborn genetic diseases | 2016-05-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV001087432 | SCV001002311 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000861897 | SCV001145510 | benign | not provided | 2019-04-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000861897 | SCV001148744 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | SCN8A: BP4, BP7 |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000861897 | SCV001954810 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000861897 | SCV001975204 | likely benign | not provided | no assertion criteria provided | clinical testing |